TSEN15 (tRNA splicing endonuclease subunit 15)

2014-11-01  

Identity

HGNC
TSEN15
LOCATION
1q25.3
LOCUSID
116461
ALIAS
C1orf19,PCH2F,sen15
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 116461
MIM: 608756
HGNC: 16791
Ensembl: ENSG00000198860

Variants:

dbSNP: 116461
ClinVar: 116461
TCGA: ENSG00000198860
COSMIC: TSEN15

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000198860ENST00000361641A0A2U3TZM3
ENSG00000198860ENST00000423085Q8WW01
ENSG00000198860ENST00000462677H0YCV5
ENSG00000198860ENST00000485209F2Z3M0
ENSG00000198860ENST00000533373E9PPN1
ENSG00000198860ENST00000643231A0A2R8YDU8
ENSG00000198860ENST00000643702A0A2R8Y5Q6
ENSG00000198860ENST00000643916A0A2R8Y5L0
ENSG00000198860ENST00000644145A0A2R8YEM0
ENSG00000198860ENST00000644479A0A2R8Y7T8
ENSG00000198860ENST00000644592A0A2R8YG40
ENSG00000198860ENST00000644815A0A2R8Y5W5
ENSG00000198860ENST00000645668Q8WW01
ENSG00000198860ENST00000645668B1ALV0
ENSG00000198860ENST00000645963A0A2R8Y6B3
ENSG00000198860ENST00000646297A0A2R8YHG0
ENSG00000198860ENST00000647437A0A2R8Y6A4
ENSG00000198860ENST00000647465A0A2R8Y6M5

Expression (GTEx)

0
10
20
30
40
50
60
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Gene ExpressionREACTOMER-HSA-74160
tRNA processingREACTOMER-HSA-72306
tRNA processing in the nucleusREACTOMER-HSA-6784531

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
345840792021Assembly defects of human tRNA splicing endonuclease contribute to impaired pre-tRNA processing in pontocerebellar hypoplasia.13
345840792021Assembly defects of human tRNA splicing endonuclease contribute to impaired pre-tRNA processing in pontocerebellar hypoplasia.13
273920772016Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly.27
273920772016Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly.27
249442872014Genetic variants related to height and risk of atrial fibrillation: the cardiovascular health study.18
249442872014Genetic variants related to height and risk of atrial fibrillation: the cardiovascular health study.18
205466122010The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature.28
205466122010The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature.28

Citation

Dessen P

TSEN15 (tRNA splicing endonuclease subunit 15)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/75221/favicon/css/lib/bootstrap.min.css